Five novel missense mutations of the phenylalanine hydroxylase gene in phenylketonuria

Hum Mutat. 1994;4(3):229-31. doi: 10.1002/humu.1380040311.
No abstract available

MeSH terms

  • Amino Acid Sequence
  • Base Sequence
  • Codon / genetics
  • DNA / genetics
  • Exons
  • Humans
  • Phenylalanine Hydroxylase / genetics*
  • Phenylketonurias / enzymology*
  • Phenylketonurias / genetics*
  • Point Mutation*
  • Polymorphism, Genetic

Substances

  • Codon
  • DNA
  • Phenylalanine Hydroxylase